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Palmoplantar keratoderma, epidermolytic

Overview

Type of Disease:Genetic, autosomal dominant

Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles ({16:Hennies et al., 1995}). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles ({24:Lucker et al., 1994}). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis ({31:Stevens et al., 1996}). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK ({30:Risk et al., 1994}).
Genetic Heterogeneity of Palmoplantar Keratoderma
Nonepidermolytic palmoplantar keratoderma (NEPPK; {600962}) is caused by mutation in the KRT1 gene. A focal form of NEPPK (FNEPPK1; {613000}) is caused by mutation in the KRT16 gene ({148067}). Another focal form, FNEPPK2 ({616400}), is caused by mutation in the TRPV3 gene ({607066}); mutation in TRPV3 can also cause Olmsted syndrome (OLMS; {614594}), a severe mutilating form of PPK. The diffuse Bothnian form of NEPPK (PPKB; {600231}) is caused by mutation in the AQP5 gene ({600442}). The Nagashima type of nonepidermolytic diffuse PPK (PPKN; {615598}) is caused by mutation in the SERPINB7 gene ({603357}).
A generalized form of epidermolytic hyperkeratosis (EHK; {113800}), also designated bullous congenital ichthyosiform erythroderma (BCIE), is caused by mutation in the keratin genes KRT1 and KRT10 ({148080}).
For a discussion of punctate PPK, see {148600}; for a discussion of striate PPK, see {148700}. Source: Online Mendelian Inheritance in Man

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